"Life is what happens to you when you're busy making other plans." – John Lennon, Beautiful Boy

Rare Disease Day: Get to Know 22q and Dup15q

Today on Rare Disease Day, I invite you to learn more about 22q deletion syndrome and dup15q syndrome!

Let’s start with 22q!

22q deletion syndrome is not all that rare! It is the second most common chromosomal syndrome after Down Syndrome. With Down Syndrome, there’s an extra copy of chromosome 21. With 22q deletion, chromosome 22 is missing a teeny tiny little piece. This missing piece can cause a variety of developmental differences. It can go undiagnosed until adulthood. You may know someone who has 22q and doesn’t even know it!

Here are some really important things I want you to know about 22q.

If you have a child born with 22q deletion syndrome:

There is a high likelihood that he/she will be totally ADORABLE.

Your child may be thoughtful, funny, and curious.

Your child will likely be loving and kind.

They have a high chance of being more resilient than you could have imagined.

Your journey with your child may be full of surprises, but you will learn and grow together.

Here are some general facts about 22q deletion syndrome:

Pin it, tweet it, spread the word! 22q deletion syndrome is not so rare after all, so why should it be rarely known? I imagine that it would be less scary for families receiving a new 22q diagnosis if they had actually heard of it before.

An individual with Dup15q, or Duplication 15q, has a little extra piece of chromosome 15 in thier DNA. Unlike 22q, Dup15q is much more rare. It is estimated that only about 1,000 people worldwide have this diagnosis. And among those diagnosed with Dup15q there are many variations in the size of the duplication and the arrangement of the extra genes. That extra piece causes several developmental differences, and just like there are variations in how the duplication presents itself, there are also variations in its effects.

Here are some important things to know about a child with Dup15q:

There is a high likelihood of SUPER CUTENESS. I mean, who can resist a cute little button nose??

There is a good chance of frequent smiling. Big, beautiful grinning.

The child may be a very good snuggler and may give drooly, but affectionate kisses.

They may be surprisingly strong and resilient.

They will likely keep your hands full and your heart fuller.

Here are some general facts about Dup15q Syndrome:

Although this particular chromosomal anomaly is rare, it is one of many possible chromosome differences that can occur during a baby’s development. Spreading awareness about rare conditions like dup15q can help bring it to the attention of doctors and researchers with the power to help us learn more about treating the effects.

Thanks for stopping by to read about 22q and Dup15q! Please show your support today for Rare Disease Day, not just for us, but for everyone out there living with rare diseases and disorders. When you put them all together, it’s really not so rare!

Here are some other sources to check out to learn about rare conditions and Rare Disease Day:

For Rare Disease Day, I was invited to share our 22q and Dup15q story on Mommies Quiet Place: a lifestyle & wellness blog by a mom with 22q, Amanda, and her family including her daughter who also has 22q. Amanda shares her experiences to inspire hope in others. She also reaches out to other 22q bloggers to connect through Meet & Greet posts. I’m so grateful to Amanda for giving me an opportunity to share, and I’m excited to share her blog with you!

Your explanations of both chromosomal anomalies made them very clear. You’re such an educator and advocate for your kids. Thanks for adding this post to DifferentDream.com’s Tuesday special needs link share.